Canonical Allele Identifier: CA435220201

Gene: NR1I2

Linked Data

• MyVariant Identifiers: chr3:g.119530492G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119811645G>A , CM000665.2:g.119811645G>A	GRCh38
NC_000003.11:g.119530492G>A , CM000665.1:g.119530492G>A	GRCh37
NC_000003.10:g.121013182G>A	NCBI36
NG_011856.1:g.36162G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.438G>A MANE Select	ENSP00000377319.3:p.Glu146=
ENST00000466380.6:c.438G>A	ENSP00000420297.2:p.Glu146=
ENST00000337940.4:c.555G>A	ENSP00000336528.4:p.Glu185=
ENST00000393716.6:c.438G>A	ENSP00000377319.2:p.Glu146=
ENST00000466380.5:c.438G>A	ENSP00000420297.1:p.Glu146=
ENST00000493757.1:n.570G>A
NM_003889.3:c.438G>A	NP_003880.3:p.Glu146=
NM_022002.2:c.555G>A	NP_071285.1:p.Glu185=
NM_033013.2:c.438G>A	NP_148934.1:p.Glu146=
NM_003889.4:c.438G>A MANE Select	NP_003880.3:p.Glu146=
NM_022002.3:c.555G>A	NP_071285.1:p.Glu185=
NM_033013.3:c.438G>A	NP_148934.1:p.Glu146=